Patients with disorders of sex development [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2021 Disorders of sex development (DSDs) are a genetically and clinically heterogeneous group of congenital conditions of the urogenital tract and reproductive system.
Renata Markosyan
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A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development [PDF]
, 2011 Disorders of sex development (DSD) are congenital conditions where chromosomal, gonad or genital development is atypical. In a significant proportion of 46,XY DSD cases it is not possible to identify a causative mutation, making genetic counseling ...
Stefan J. White +10 more
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Disorders of Sex Development of Adrenal Origin [PDF]
Frontiers in Endocrinology, 2021 Disorders of Sex Development (DSD) are anomalies occurring in the process of fetal sexual differentiation that result in a discordance between the chromosomal sex and the sex of the gonads and/or the internal and/or external genitalia.
Gabriela P. Finkielstain +4 more
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Ultrasonography for disorders of sex development in pediatrics [PDF]
Frontiers in PediatricsObjectiveThis study aimed to evaluate the clinical value of ultrasonography in the management of disorders of sex development (DSDs).MethodsUltrasonographic appearance and clinical data of 82 cases with DSD were reviewed retrospectively.ResultsIn total ...
Yuting Wu +3 more
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Current Diagnostic Approaches in the Genetic Diagnosis of Disorders of Sex Development [PDF]
JCRPEDisorders of sex development (DSD) are a clinically and genetically highly heterogeneous group of congenital disorders. The most accurate and rapid diagnosis may be possible with a complementary multidisciplinary diagnostic approach, including ...
Deniz Özalp Kızılay, Samim Özen
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Ovotesticular disorders of sex development with dysgerminoma in a 46, XX/46, XY female: A case report [PDF]
Gynecologic Oncology ReportsThe diagnosis of ovotesticular disorders of sex development can only be confirmed when both testicular and ovarian tissues are present simultaneously in the same individual, regardless of the patient’s karyotype. This report aims to discuss the diagnosis
Yafei Xue +4 more
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Editorial: Shared decision making in pediatric differences/disorders of sex development [PDF]
Frontiers in Urology, 2023 Kristina Suorsa-Johnson +5 more
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Prenatal management of disorders of Sex development [PDF]
, 2012 Disorders of sex development (DSD) rarely present prenatally but, as they are very complex conditions, management should be directed by highly specialised medical teams to allow consideration of all aspects of diagnosis, treatment and ethical issues.
Aigrain, Y. (Yves) +3 more
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Fully Masculinized 46,XX Individuals with Congenital Adrenal Hyperplasia: Perspective Regarding Sex of Rearing and Surgery [PDF]
International Journal of Fertility and Sterility, 2022 Current guidelines for gender assignment for all 46,XX congenital adrenal hyperplasia (CAH) continue to be female. This decision is most challenging for individuals with a 46,XX karyotype born with (CAH) having severely masculinized genitalia (Prader 4 ...
Collin Jones +3 more
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8703 Retrotranscribed sequences, a missing piece in the puzzle of Differences/Disorders of Sex Development with unknown genetic causes [PDF]
J Endocr SocRafael Loch Batista +8 more
europepmc +4 more sources